NM_153717.3(EVC):c.1744C>G (p.Leu582Val) AND Ellis-van Creveld syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 28, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001271205.1

Allele description [Variation Report for NM_153717.3(EVC):c.1744C>G (p.Leu582Val)]

NM_153717.3(EVC):c.1744C>G (p.Leu582Val)

Gene:

EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_153717.3(EVC):c.1744C>G (p.Leu582Val)

HGVS:

NC_000004.12:g.5783732C>G
NG_008843.1:g.77536C>G
NM_001306090.2:c.1744C>G
NM_153717.3:c.1744C>GMANE SELECT
NP_001293019.1:p.Leu582Val
NP_714928.1:p.Leu582Val
NC_000004.11:g.5785459C>G
NM_153717.2:c.1744C>G

Protein change:

L582V

Links:

dbSNP: rs367863826

NCBI 1000 Genomes Browser:

rs367863826

Molecular consequence:

NM_001306090.2:c.1744C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153717.3:c.1744C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ellis-van Creveld syndrome (EVC)
Synonyms:: Chondroectodermal dysplasia; Mesoectodermal dysplasia
Identifiers:: MONDO: MONDO:0009162; MedGen: C0013903; Orphanet: 289; OMIM: 225500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001452195	Natera, Inc.	no assertion criteria provided	Uncertain significance (Oct 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001452195

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Oct 28, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001452195.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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